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Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia

Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be inform...

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Autores principales: Gómez-Seguí, Inés, Sánchez-Izquierdo, Dolors, Barragán, Eva, Such, Esperanza, Luna, Irene, López-Pavía, María, Ibáñez, Mariam, Villamón, Eva, Alonso, Carmen, Martín, Iván, Llop, Marta, Dolz, Sandra, Fuster, Óscar, Montesinos, Pau, Cañigral, Carolina, Boluda, Blanca, Salazar, Claudia, Cervera, Jose, Sanz, Miguel A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069034/
https://www.ncbi.nlm.nih.gov/pubmed/24959826
http://dx.doi.org/10.1371/journal.pone.0100245
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author Gómez-Seguí, Inés
Sánchez-Izquierdo, Dolors
Barragán, Eva
Such, Esperanza
Luna, Irene
López-Pavía, María
Ibáñez, Mariam
Villamón, Eva
Alonso, Carmen
Martín, Iván
Llop, Marta
Dolz, Sandra
Fuster, Óscar
Montesinos, Pau
Cañigral, Carolina
Boluda, Blanca
Salazar, Claudia
Cervera, Jose
Sanz, Miguel A.
author_facet Gómez-Seguí, Inés
Sánchez-Izquierdo, Dolors
Barragán, Eva
Such, Esperanza
Luna, Irene
López-Pavía, María
Ibáñez, Mariam
Villamón, Eva
Alonso, Carmen
Martín, Iván
Llop, Marta
Dolz, Sandra
Fuster, Óscar
Montesinos, Pau
Cañigral, Carolina
Boluda, Blanca
Salazar, Claudia
Cervera, Jose
Sanz, Miguel A.
author_sort Gómez-Seguí, Inés
collection PubMed
description Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (6%) the most frequent copy-number abnormalities (CNA). Four patients (8%) showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24) and del(7q33-qter), ACA were infrequent (≤3%) but most of them recurrent (70%). Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17) that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics.
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spelling pubmed-40690342014-06-27 Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia Gómez-Seguí, Inés Sánchez-Izquierdo, Dolors Barragán, Eva Such, Esperanza Luna, Irene López-Pavía, María Ibáñez, Mariam Villamón, Eva Alonso, Carmen Martín, Iván Llop, Marta Dolz, Sandra Fuster, Óscar Montesinos, Pau Cañigral, Carolina Boluda, Blanca Salazar, Claudia Cervera, Jose Sanz, Miguel A. PLoS One Research Article Acute promyelocytic leukemia (APL) is characterized by the t(15;17)(q22;q21), but additional chromosomal abnormalities (ACA) and other rearrangements can contribute in the development of the whole leukemic phenotype. We hypothesized that some ACA not detected by conventional techniques may be informative of the onset of APL. We performed the high-resolution SNP array (SNP-A) 6.0 (Affymetrix) in 48 patients diagnosed with APL on matched diagnosis and remission sample. Forty-six abnormalities were found as an acquired event in 23 patients (48%): 22 duplications, 23 deletions and 1 Copy-Neutral Loss of Heterozygocity (CN-LOH), being a duplication of 8(q24) (23%) and a deletion of 7(q33-qter) (6%) the most frequent copy-number abnormalities (CNA). Four patients (8%) showed CNAs adjacent to the breakpoints of the translocation. We compared our results with other APL series and found that, except for dup(8q24) and del(7q33-qter), ACA were infrequent (≤3%) but most of them recurrent (70%). Interestingly, having CNA or FLT3 mutation were mutually exclusive events. Neither the number of CNA, nor any specific CNA was associated significantly with prognosis. This study has delineated recurrent abnormalities in addition to t(15;17) that may act as secondary events and could explain leukemogenesis in up to 40% of APL cases with no ACA by conventional cytogenetics. Public Library of Science 2014-06-24 /pmc/articles/PMC4069034/ /pubmed/24959826 http://dx.doi.org/10.1371/journal.pone.0100245 Text en © 2014 Gómez-Seguí et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited.
spellingShingle Research Article
Gómez-Seguí, Inés
Sánchez-Izquierdo, Dolors
Barragán, Eva
Such, Esperanza
Luna, Irene
López-Pavía, María
Ibáñez, Mariam
Villamón, Eva
Alonso, Carmen
Martín, Iván
Llop, Marta
Dolz, Sandra
Fuster, Óscar
Montesinos, Pau
Cañigral, Carolina
Boluda, Blanca
Salazar, Claudia
Cervera, Jose
Sanz, Miguel A.
Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title_full Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title_fullStr Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title_full_unstemmed Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title_short Single-Nucleotide Polymorphism Array-Based Karyotyping of Acute Promyelocytic Leukemia
title_sort single-nucleotide polymorphism array-based karyotyping of acute promyelocytic leukemia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4069034/
https://www.ncbi.nlm.nih.gov/pubmed/24959826
http://dx.doi.org/10.1371/journal.pone.0100245
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